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Evaluation of the bestrophin gene as a candidate gene in familial and sporadic cases of age � related macular degeneration

✍ Scribed by Miki Hiraoka; Michael T. Trese; Barkur S. Shastry


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
300 KB
Volume
1
Category
Article
ISSN
1438-7506

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## Abstract Using an Affymetrix GeneChip® Human Mapping 100K Set to study a patient with a late‐presenting, right‐sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in sit